R10C (p.Arg10Cys) variant of POLE (Q07864)
R10C (p.Arg10Cys) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- rs1245695191
- ClinGen CA387373449
- ClinVar RCV000679618
- ClinVar RCV004026157
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0929
- REVEL 0.01
- CADD 19.10
- PolyPhen-2 0.06
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)